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European Journal of Human Genetics: EJHG

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https://www.readbyqxmd.com/read/29789587/more-than-an-information-service-are-counselling-skills-needed-by-genetics-professionals-in-the-genomic-era
#1
REVIEW
Heather Skirton
No abstract text is available yet for this article.
May 22, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29777207/clinical-progression-and-metachronous-paragangliomas-in-a-large-cohort-of-sdhd-germline-variant-carriers
#2
Berdine L Heesterman, Lisa M H de Pont, Andel Gl van der Mey, Jean-Pierre Bayley, Eleonora Pm Corssmit, Frederik J Hes, Berit M Verbist, Peter Paul G van Benthem, Jeroen C Jansen
Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is generally advised, the risk of metachronous lesions is presently unknown. In a large Dutch cohort of SDHD variant carriers, we studied the development of new paragangliomas, and the evolution of symptoms and cranial nerve impairment. Recurrent event analysis and the Kaplan-Meier product limit estimator were used to study the risk of new lesions. The relation between several predictors and development of new symptoms was assessed using logistic regression...
May 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29777206/the-fair-guiding-principles-for-data-stewardship-fair-enough
#3
REVIEW
Martin Boeckhout, Gerhard A Zielhuis, Annelien L Bredenoord
The FAIR guiding principles for research data stewardship (findability, accessibility, interoperability, and reusability) look set to become a cornerstone of research in the life sciences. A critical appraisal of these principles in light of ongoing discussions and developments about data sharing is in order. The FAIR principles point the way forward for facilitating data sharing more systematically-provided that a number of ethical, methodological, and organisational challenges are addressed as well.
May 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29769629/risk-of-multiple-pancreatic-cancers-in-cdkn2a-p16-leiden-mutation-carriers
#4
Isaura Ibrahim, Babs G Sibinga Mulder, Bert Bonsing, Hans Morreau, Arantza Farina Sarasqueta, Akin Inderson, Saskia Luelmo, Shirin Feshtali, Thomas P Potjer, Wouter de Vos Tot Nederveen Cappel, Martin Wasser, Hans F A Vasen
CDKN2A-p16-Leiden mutation carriers have a substantial risk of developing pancreatic ductal adenocarcinoma (PDAC). One of the main clinical features of hereditary cancer is the development of multiple cancers. Since 2000, we have run a surveillance program for CDKN2A-p16-Leiden mutation carriers. The patients are offered a yearly MRI with optionally endoscopic ultrasound. In patients with a confirmed lesion, usually, a partial resection of the pancreas is recommended. A total of 18 PDAC (8.3%) were detected in 218 mutation carriers...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29769628/cugc-for-congenital-primary-aphakia
#5
Hajrah Sarkar, William Moore, Bart P Leroy, Mariya Moosajee
No abstract text is available yet for this article.
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29769627/clinical-and-functional-characterization-of-the-cdh1-germline-variant-c-1679c-g-in-three-unrelated-families-with-hereditary-diffuse-gastric-cancer
#6
Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo, João Miguel Sanches, Antonio Sánchez-Ruiz, Luis Robles, Raquel Seruca, Miguel Urioste
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-cadherin, the protein encoded by CDH1, and to predict their clinical significance. Herein, we have identified a recurrent germline missense variant, c.1679C>G, segregating with gastric cancer in three unrelated Spanish families...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29760432/microcephaly-short-stature-and-limb-abnormality-disorder-due-to-novel-autosomal-biallelic-donson-mutations-in-two-german-siblings
#7
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes...
May 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29760431/evidence-that-ubash3-is-a-causal-gene-for-type-1-diabetes
#8
John A Todd
No abstract text is available yet for this article.
May 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29748569/a-novel-naa10-variant-with-impaired-acetyltransferase-activity-causes-developmental-delay-intellectual-disability-and-hypertrophic-cardiomyopathy
#9
Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen
The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradation, protein localization and protein-protein interactions. In recent years several X-linked NAA10 variants have been associated with genetic disorders. We have identified a previously undescribed NAA10 c.215T>C p.(Ile72Thr) variant in three boys from two unrelated families with a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants...
May 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29720677/circulating-micrornas-disclose-biology-of-normal-cognitive-function-in-healthy-elderly-people-a-discovery-twin-study
#10
Jonas Mengel-From, Søren Feddersen, Ulrich Halekoh, Niels H H Heegaard, Matt McGue, Kaare Christensen, Qihua Tan, Lene Christiansen
Neurobiology is regulated by miRNA. Here circulating plasma miRNAs were assayed on a 754 miRNA OpenArray platform using 90 monozygotic elderly twins (73-95 year of age) and associated with mini mental state examination (MMSE) and a five-component cognitive score (CCS) in an explorative study. Both ordinary individual and twin-pair analyses were performed with level of cognitive scores. Candidate miRNAs were further associated with cognitive decline over 10 years using up to six repeated assessments. A total of 278 miRNAs were expressed in plasma from at least ten participants and 23 miRNAs were nominally associated (i...
May 2, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29725052/whole-genome-sequencing-reveals-new-insights-into-age-related-hearing-loss-cumulative-effects-pleiotropy-and-the-role-of-selection
#11
Dragana Vuckovic, Massimo Mezzavilla, Massimiliano Cocca, Anna Morgan, Marco Brumat, Eulalia Catamo, Maria Pina Concas, Ginevra Biino, Annamaria Franzè, Umberto Ambrosetti, Mario Pirastu, Paolo Gasparini, Giorgia Girotto
Age-related hearing loss (ARHL) is the most common sensory disorder in the elderly. Although not directly life threatening, it contributes to loss of autonomy and is associated with anxiety, depression and cognitive decline. To search for genetic risk factors underlying ARHL, a large whole-genome sequencing (WGS) approach has been carried out in a cohort of 212 cases and controls, both older than 50 years to select genes characterized by a burden of variants specific to cases or controls. Accordingly, the total variation load per gene was compared and two groups were detected: 375 genes more variable in cases and 371 more variable in controls...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706646/comprehensive-genomic-analysis-of-patients-with-disorders-of-cerebral-cortical-development
#12
Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A Gibbs, James R Lupski
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706645/identification-of-variants-in-pleiotropic-genes-causing-isolated-premature-ovarian-insufficiency-implications-for-medical-practice
#13
Elena J Tucker, Sonia R Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrew H Sinclair
Next-generation sequencing (NGS) is increasingly being used in a clinical setting for the molecular diagnosis of patients with heterogeneous disorders, such as premature ovarian insufficiency (POI). We performed NGS of ~1000 candidate genes in four unrelated patients with POI. We discovered the genetic cause of "isolated" POI in two cases, both of which had causative variants in surprising genes. In the first case, a homozygous nonsense variant in NBN was causative. Recessive function-altering NBN variants typically cause Nijmegen breakage syndrome characterized by microcephaly, cancer predisposition, and immunodeficiency, none of which are evident in the patient...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706644/distinct-variants-affecting-differential-splicing-of-tgfbr1-exon-5-cause-either-loeys-dietz-syndrome-or-multiple-self-healing-squamous-epithelioma
#14
Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro
Variants in TGFBR1 have been reported to induce two completely distinct diseases, namely Loeys-Dietz syndrome (LDS) and multiple self-healing squamous epithelioma (MSSE). However, detailed mechanisms underlying this effect remain unknown. We report a Japanese familial case of LDS with a novel splice donor site variant in TGFBR1 gene (c.973 + 1 G > A; NG_007461.1). The intronic variant was predicted to mediate in-frame exon 5 skipping within the serine/threonine kinase (STK) domain, which may also be mediated by a similar TGFBR1 variant of a splice acceptor site in intron 4 (c...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706643/are-your-covariates-under-control-how-normalization-can-re-introduce-covariate-effects
#15
Oliver Pain, Frank Dudbridge, Angelica Ronald
Many statistical tests rely on the assumption that the residuals of a model are normally distributed. Rank-based inverse normal transformation (INT) of the dependent variable is one of the most popular approaches to satisfy the normality assumption. When covariates are included in the analysis, a common approach is to first adjust for the covariates and then normalize the residuals. This study investigated the effect of regressing covariates against the dependent variable and then applying rank-based INT to the residuals...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706642/genes-flow-by-the-channels-of-culture-the-genetic-imprint-of-matrilocality-in-ngazidja-comoros-islands
#16
Stéphane Mazières, Pauline Oviedo, Célia Kamel, Pascal Bailly, Caroline Costedoat, Jacques Chiaroni
Post-marital residence of spouses is one of the architects of population genetic structure. In the present study, we tested how the place of residence of males and females in Ngazidja, Comoros Islands, has unequally channeled, by dispersal among villages, the male and female genetic diversity. Using sequences of the hypervariable segment I of the mitochondrial DNA (mtDNA HVS-I) and six Y-chromosome microsatellites (Y-STRs), we measured the genetic variation and male-to-female effective number of migrants ratios based on FST values and revealed a genetic structure mostly driven by male gene flow across villages...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706641/australians-views-on-personal-genomic-testing-focus-group-findings-from-the-genioz-study
#17
Sylvia A Metcalfe, Chriselle Hickerton, Jacqueline Savard, Bronwyn Terrill, Erin Turbitt, Clara Gaff, Kathleen Gray, Anna Middleton, Brenda Wilson, Ainsley J Newson
Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18-24, 25-49, and ≥50 years...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706640/rna-analysis-of-cancer-predisposing-genes-in-formalin-fixed-paraffin-embedded-tissue-determines-aberrant-splicing
#18
Anne Ml Jansen, Heleen M van der Klift, Marieke Ae Roos, Jaap Dh van Eendenburg, Carli Mj Tops, Juul T Wijnen, Frederik J Hes, Hans Morreau, Tom van Wezel
High-throughput sequencing efforts in molecular tumour diagnostics detect increasing numbers of novel variants, including variants predicted to affect splicing. In silico prediction tools can reliably predict the effect of variant disrupting canonical splice sites; however, experimental validation is required to confirm aberrant splicing. Here, we present RNA analysis performed for 13 canonical splice site variants predicted or known to result in splicing in the cancer predisposition genes MLH1, MSH2, MSH6, APC and BRCA1...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706639/carrier-frequency-analysis-of-mutations-causing-autosomal-recessive-inherited-retinal-diseases-in-the-israeli-population
#19
Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman, Eran Pras, Ohad Wormser, Ohad S Birk, Libe Gradstein, Eyal Banin, Tamar Ben-Yosef, Dror Sharon
Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods to calculate carrier frequency for mutations causing autosomal-recessive (AR) IRDs in the Israeli population. We created an SQL database containing information on 178 genes from gnomAD (including genotyping of 5706 Ashkenazi Jewish (AJ) individuals) and our cohort of >2000 families with IRDs...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706638/genome-wide-linkage-analysis-in-spanish-melanoma-prone-families-identifies-a-new-familial-melanoma-susceptibility-locus-at-11q
#20
Miriam Potrony, Joan Anton Puig-Butille, James M Farnham, Pol Giménez-Xavier, Celia Badenas, Gemma Tell-Martí, Paula Aguilera, Cristina Carrera, Josep Malvehy, Craig C Teerlink, Susana Puig
The main genetic factors for familial melanoma remain unknown in >75% of families. CDKN2A is mutated in around 20% of melanoma-prone families. Other high-risk melanoma susceptibility genes explain <3% of families studied to date. We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. We included 68 individuals from 2, 3, and 6 families with 2, 3, and at least 4 melanoma cases. We detected a locus with significant linkage evidence at 11q14...
April 30, 2018: European Journal of Human Genetics: EJHG
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